Variation in Expression of Congenital Cardiovascular Malformations within and Among Families
| Autor: | Joann A. Boughman, Edward B. Clark, Charlotte Ferencz, Jacqueline A. Astemborski, Kate A. Berg |
|---|---|
| Rok vydání: | 1988 |
| Předmět: |
Down syndrome
Pediatrics medicine.medical_specialty education.field_of_study business.industry Population medicine.disease Teratology Hypoplastic left heart syndrome symbols.namesake medicine Mendelian inheritance symbols Etiology Cardiovascular malformations business education Prospective cohort study |
| Zdroj: | Phenotypic Variation in Populations ISBN: 9781468454628 |
| DOI: | 10.1007/978-1-4684-5460-4_10 |
| Popis: | Congenital cardiovascular malformations (CCVM) constitute a major portion of clinically significant birth defects, with the clinical literature suggesting population frequencies estimated to be 4 to 8 per 1,000 (reviewed by Ferencz et al., 1985). Approximately 30% of children with CCVM have other major congenital malformations as well (Hoffman and Christianson, 1978). The etiologies of CCVM are heterogeneous, and include well defined Mendelian syndromes (McKusick, 1986), chromosomal abnormalities (DeGrouchy, 1984), and specific teratogenic causes (Smith, 1982). It is supposed that approximately 5% of CCVM are single gene disorders (Neill, 1972), and about 5–6% have been suggested to be associated with chromosomal anomalies, especially autosomal trisomies (Nora and Nora, 1983). Specific teratogenic agents are known to cause CCVM, but these exposures account for only a small proportion of cases. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|